congenital bile acid synthesis defect 3

Summary

DOID:0111070 - congenital bile acid synthesis defect 3

Disease Ontology Definition:A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.

Synonyms: CBAS3, oxysterol 7-alpha-hydroxylase deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cyp7b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013439 - congenital bile acid synthesis defect 3

MONDO:0013439 - congenital bile acid synthesis defect 3

MIM:

MIM:613812 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3

MIM:613812 - BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): congenital bile acid synthesis defect (is_a), genetic disease (is_a)